Product Details

SNP ID

rs138248410

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:67255899 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTAATCTTACCTGATCTTTTCTC[A/G]CCCTCACTTTCACCATCACGCAGCA

Phenotype

MIM: 614888 MIM: 612523

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AAGAB PubMed Links

Gene Details

Gene

AAGAB

Gene Name

alpha- and gamma-adaptin binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271885.1		Intron			NP_001258814.1
NM_001271886.1		Intron			NP_001258815.1
NM_024666.4		Intron			NP_078942.3
XM_011522020.1		Intron			XP_011520322.1

Gene

IQCH

Gene Name

IQ motif containing H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031715.2		Intron			NP_001026885.1
NM_001284347.1		Intron			NP_001271276.1
NM_001284348.1		Intron			NP_001271277.1
NM_001284349.1		Intron			NP_001271278.1
NM_001322470.1		Intron			NP_001309399.1
NM_001322471.1		Intron			NP_001309400.1
NM_001322472.1		Intron			NP_001309401.1
NM_001322473.1		Intron			NP_001309402.1
NM_001322474.1		Intron			NP_001309403.1
NM_001322475.1		Intron			NP_001309404.1
NM_022784.2		Intron			NP_073621.2
XM_011521907.2		Intron			XP_011520209.1
XM_011521908.2		Intron			XP_011520210.1
XM_011521911.2		Intron			XP_011520213.1
XM_011521912.2		Intron			XP_011520214.1
XM_011521913.2		Intron			XP_011520215.1
XM_011521914.2		Intron			XP_011520216.1
XM_011521915.2		Intron			XP_011520217.1
XM_011521916.2		Intron			XP_011520218.1
XM_011521917.2		Intron			XP_011520219.1
XM_011521918.2		Intron			XP_011520220.1
XM_011521922.2		Intron			XP_011520224.1
XM_011521923.2		Intron			XP_011520225.1
XM_017022491.1		Intron			XP_016877980.1
XM_017022492.1		Intron			XP_016877981.1
XM_017022493.1		Intron			XP_016877982.1
XM_017022494.1		Intron			XP_016877983.1
XM_017022495.1		Intron			XP_016877984.1
XM_017022496.1		Intron			XP_016877985.1
XM_017022497.1		Intron			XP_016877986.1
XM_017022498.1		Intron			XP_016877987.1
XM_017022499.1		Intron			XP_016877988.1
XM_017022500.1		Intron			XP_016877989.1
XM_017022501.1		Intron			XP_016877990.1
XM_017022502.1		Intron			XP_016877991.1
XM_017022503.1		Intron			XP_016877992.1
XM_017022504.1		Intron			XP_016877993.1

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